对匈牙利局灶性肌张力障碍患者进行遗传筛查发现了几种新的潜在致病性基因突变。
Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.
机构信息
Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary.
Department of Medical Genetics, University of Szeged, 4, Somogyi Béla Str., H-6720 Szeged, Hungary.
出版信息
Int J Mol Sci. 2023 Jun 28;24(13):10745. doi: 10.3390/ijms241310745.
Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years. For the next-generation sequencing (NGS) approach, 30 genes were selected on the basis of a thorough search of the scientific literature. Assessment of 30 CD- and BSP-associated genes from 121 patients revealed a total of 209 different heterozygous variants in 24 genes. Established clinical and genetic validity was determined for nine heterozygous variations (three likely pathogenic and six variants of uncertain significance). Detailed genetic examination is an important part of the work-up for focal dystonia forms. To our knowledge, our investigation is the first such study to be carried out in the Middle-European region.
肌张力障碍是一种罕见的运动障碍，其特征是持续或间歇性肌肉收缩导致异常且常常重复的运动、姿势或两者兼有。两种最常见的成人局灶性肌张力障碍是颈部肌张力障碍（CD）和良性特发性眼睑痉挛（BSP）。本研究共纳入 121 例患者（CD74 例，BSP47 例）。患者平均年龄为 64 岁。对于下一代测序（NGS）方法，根据对科学文献的深入搜索，选择了 30 个基因。对 121 例患者的 30 个 CD 和 BSP 相关基因进行评估，在 24 个基因中总共发现了 209 种不同的杂合变异。确定了 9 种杂合变异（3 种可能致病性和 6 种意义不明的变异）的临床和遗传有效性。详细的基因检查是局灶性肌张力障碍形式检查的重要组成部分。据我们所知，我们的研究是在中东欧地区进行的第一项此类研究。
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